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Arterial tortuosity syndrome : 40 new families and literature review
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Comprehensive NF1 screening on cultured Schwann cells from neurofibromas: towards an extensive study of the somatic mutation spectrum in neurofibromatosis type 1
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EDS/OI caused by collagen type I mutations
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
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Cutis Laxa of the autosomal recessive type in a consanguineous family
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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
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Mutation analysis of P73 and TP53 in Merkel cell carcinoma.
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Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.
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Human myosin V gene produces different transcripts in a cell type-specific manner
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Correlation of ultrastructural collagen fibril aberrations with a mutation in the COL5A1 gene in Ehlers-Danlos syndrome type I